A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997360



Internal ID16943626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116031696..116246695hg38UCSC Ensembl
Outerchr12:116469501..116684500hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38215000
hg19215000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952488
Supporting Variants
SamplesBILGI_BIOE
Known GenesMED13L, MIR620
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997360
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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